Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis

J Neuromuscul Dis. 2017;4(4):357-362. doi: 10.3233/JND-170260.

Abstract

Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies. Given that there is a specific treatment strategy for EoE, these cases highlight the importance of considering this condition in clinical investigations - especially for patients with SMA - who have GOR, discomfort, and oral aversion.

Keywords: SMA; SMN; Spinal muscular atrophy; dysphagia; eosinophilic oesophagitis; gastro-oesophageal reflux; immune dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Animals
  • Child
  • Diagnosis, Differential
  • Disease Models, Animal
  • Eosinophilic Esophagitis / complications*
  • Eosinophilic Esophagitis / diagnosis*
  • Eosinophilic Esophagitis / pathology
  • Eosinophilic Esophagitis / therapy
  • Esophagus / pathology
  • Female
  • Humans
  • Male
  • Mice, Transgenic
  • Spinal Muscular Atrophies of Childhood / complications*
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / pathology
  • Spinal Muscular Atrophies of Childhood / therapy